title: [Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1].
abstract: We identified and characterized a Chinese family with autosomal dominant Brachydactyly type B1 (BDB1). Linkage analysis revealed that the disease gene of the Chinese BDB1 family was linked to ROR2 locus. Mutational hot spot of ROR2 gene was amplified by polymerase chain reaction (PCR) and sequenced directly. A c.2265C>A heterozygous mutation was detected in all of the patients. This mutation led to the change of p.Y755X in protein level and a truncated ROR2 protein losing integrant domains was generated. The mutation was detected in all the patients, but not in all the normal individuals of this family and 50 normal controls. This paper for the first time reported a c.2265C>A mutation in ROR2 gene of a family with BDB1 in China, which enriches ROR2 gene mutation spectrum in Chinese with BDB1.
authors.affiliation: Henan Provincial Research Institute of Population and Family Planning, Henan Key Laboratory of Intervention Technology for Birth Defects, Zhengzhou 450002, China. licongmin676@sohu.com
authors.forename: Cong-Min
authors.initials: CM
authors.lastname: Li
authors.forename: Feng-Yu
authors.initials: FY
authors.lastname: Wang
authors.forename: Wei-Wei
authors.initials: WW
authors.lastname: Sun
authors.forename: Shu-Li
authors.initials: SL
authors.lastname: Han
authors.forename: Ming-Xiu
authors.initials: MX
authors.lastname: Chang
authors.forename: Hui-Gen
authors.initials: HG
authors.lastname: Feng
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D057050:Receptor Tyrosine Kinase-like Orphan Receptors / Q000737:chemistry / Q000235:genetics*; D016415:Sequence Alignment; D055815:Young Adult
chemical_list: C078717:ROR2 protein, human; D057050:Receptor Tyrosine Kinase-like Orphan Receptors